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Quoted phrase not found in phrase index: "2-hydroxyglutarate aciduria"
Page 1
Isocitrate dehydrogenase 1/2 mutational analyses and 2-hydroxyglutarate measurements in Wilms tumors.
Rakheja D, Mitui M, Boriack RL, DeBerardinis RJ. Rakheja D, et al. Pediatr Blood Cancer. 2011 Mar;56(3):379-83. doi: 10.1002/pbc.22697. Epub 2010 Nov 22. Pediatr Blood Cancer. 2011. PMID: 21225914
Recently, we noted a Wilms tumor in a child with L-2-HGA. Given the accumulating evidence that both enantiomers of 2-hydroxyglutarate are associated with cellular transformation, we investigated if sporadic Wilms tumors are associated with IDH1 or IDH2 mutations or …
Recently, we noted a Wilms tumor in a child with L-2-HGA. Given the accumulating evidence that both enantiomers of 2-hydroxyglutar …
D-2-Hydroxyglutaric aciduria and subdural haemorrhage.
Kwong KL, Mak T, Fong CM, Poon KH, Wong SN, So KT. Kwong KL, et al. Acta Paediatr. 2002;91(6):716-8. doi: 10.1080/080352502760069188. Acta Paediatr. 2002. PMID: 12162609
D-2-Hydroxyglutaric aciduria (D-2-HG) is a rare metabolic disorder. First reported in 1980, it does not have any well-recognized presentation or specific treatment regimen. ...
D-2-Hydroxyglutaric aciduria (D-2-HG) is a rare metabolic disorder. First reported in 1980, it does not have any well-recognized pres …
L-2-hydroxyglutaric aciduria and brain malignant tumors: a predisposing condition?
Moroni I, Bugiani M, D'Incerti L, Maccagnano C, Rimoldi M, Bissola L, Pollo B, Finocchiaro G, Uziel G. Moroni I, et al. Neurology. 2004 May 25;62(10):1882-4. doi: 10.1212/01.wnl.0000125335.21381.87. Neurology. 2004. PMID: 15159502 Review.
L-2-hydroxyglutaric aciduria is a rare metabolic encephalopathy displaying a subcortical leukoencephalopathy on MRI. ...The authors report on four patients who developed a malignant brain tumor during the course of the disease. This association points to a possible …
L-2-hydroxyglutaric aciduria is a rare metabolic encephalopathy displaying a subcortical leukoencephalopathy on MRI. ...The authors r …
L-2-hydroxyglutaric aciduria: a report of 29 patients.
Topçu M, Aydin OF, Yalçinkaya C, Haliloğlu G, Aysun S, Anlar B, Topaloğlu H, Turanli G, Yalnizoğlu D, Kesimer M, Coşkun T. Topçu M, et al. Turk J Pediatr. 2005 Jan-Mar;47(1):1-7. Turk J Pediatr. 2005. PMID: 15884621
L-2-hydroxyglutaric aciduria (L2HGA) is a chronic slowly progressive neurodegenerative disease characterized mainly by psychomotor developmental delay and cerebellar dysfunction. ...During the follow-up period, all patients had a static encephalopathy course. The un …
L-2-hydroxyglutaric aciduria (L2HGA) is a chronic slowly progressive neurodegenerative disease characterized mainly by psychomotor de …
L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings.
Seijo-Martínez M, Navarro C, Castro del Río M, Vila O, Puig M, Ribes A, Butron M. Seijo-Martínez M, et al. Arch Neurol. 2005 Apr;62(4):666-70. doi: 10.1001/archneur.62.4.666. Arch Neurol. 2005. PMID: 15824270
BACKGROUND: l-2-Hydroxyglutaric aciduria is a rare, infantile-onset, autosomal recessive organic aciduria affecting exclusively the central nervous system. ...OBJECTIVE: To present the clinical, neuroimaging, and neuropathological findings of l-2-hydroxyglutaric …
BACKGROUND: l-2-Hydroxyglutaric aciduria is a rare, infantile-onset, autosomal recessive organic aciduria affecting exclusivel …
Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria.
Peng W, Ma XW, Yang X, Zhang WQ, Yan L, Wang YX, Liu X, Wang Y, Feng ZC. Peng W, et al. BMC Med Genet. 2018 Sep 14;19(1):167. doi: 10.1186/s12881-018-0675-9. BMC Med Genet. 2018. PMID: 30217188 Free PMC article.
BACKGROUND: L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare organic aciduria neurometabolic disease that is inherited as an autosomal recessive mode and have a variety of symptoms, such as psychomotor developmental retardation, epilepsy, cerebral symptoms as well a …
BACKGROUND: L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare organic aciduria neurometabolic disease that is inherited as an a …
Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment.
Mühlhausen C, Salomons GS, Lukacs Z, Struys EA, van der Knaap MS, Ullrich K, Santer R. Mühlhausen C, et al. J Inherit Metab Dis. 2014 Sep;37(5):775-81. doi: 10.1007/s10545-014-9702-y. Epub 2014 Apr 1. J Inherit Metab Dis. 2014. PMID: 24687295
Combined D,L-2-hydroxyglutaric aciduria (DL-2HGA; OMIM #615182) is a rare neurometabolic disorder clinically characterized by muscular hypotonia, severe neurodevelopmental dysfunction, and intractable seizures associated with respiratory distress. Biochemically, DL-2HGA pa …
Combined D,L-2-hydroxyglutaric aciduria (DL-2HGA; OMIM #615182) is a rare neurometabolic disorder clinically characterized by muscula …
L-2-Hydroxyglutaric aciduria: clinical, genetic, and brain MRI characteristics in two adult sisters.
Goffette SM, Duprez TP, Nassogne MC, Vincent MF, Jakobs C, Sindic CJ. Goffette SM, et al. Eur J Neurol. 2006 May;13(5):499-504. doi: 10.1111/j.1468-1331.2006.01282.x. Eur J Neurol. 2006. PMID: 16722976
We report on two sisters from consanguineous parents, in whom L-2-HG aciduria was diagnosed at an adult age. Although magnetic resonance imaging and spectroscopic findings were severely abnormal in both, they experienced a different clinical course. ...For the two p …
We report on two sisters from consanguineous parents, in whom L-2-HG aciduria was diagnosed at an adult age. Although magnetic resona …
L-2-hydroxyglutaric aciduria: identification of ten novel mutations in the L2HGDH gene.
Sass JO, Jobard F, Topçu M, Mahfoud A, Werlé E, Cure S, Al-Sannaa N, Alshahwan SA, Bataillard M, Cimbalistiene L, Grolik C, Kemmerich V, Omran H, Sztriha L, Tabache M, Fischer J. Sass JO, et al. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S275-9. doi: 10.1007/s10545-008-0855-4. Epub 2008 Apr 14. J Inherit Metab Dis. 2008. PMID: 18415700
L-2-hydroxyglutaric aciduria (L-2-HGA) is a metabolic disease with an autosomal recessive mode of inheritance. ...
L-2-hydroxyglutaric aciduria (L-2-HGA) is a metabolic disease with an autosomal recessive mode of inheritance. ...
L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: neuroimaging findings.
Haliloglu G, Jobard F, Oguz KK, Anlar B, Akalan N, Coskun T, Sass JO, Fischer J, Topcu M. Haliloglu G, et al. Neuropediatrics. 2008 Apr;39(2):119-22. doi: 10.1055/s-2008-1081217. Neuropediatrics. 2008. PMID: 18671189
L-2-Hydroxyglutaric aciduria (L-2-HGA, MIM 236792) is a rare autosomal recessive neurodegenerative disorder characterized by psychomotor delay, cerebellar and extrapyramidal signs and subcortical leukoencephalopathy with basal ganglia and dentate nuclei involvement. ...In …
L-2-Hydroxyglutaric aciduria (L-2-HGA, MIM 236792) is a rare autosomal recessive neurodegenerative disorder characterized by psychomo …
16 results